Muscular Dystrophy

Muscular Dystrophy

Advancing toward a cure

Muscular dystrophies are particularly debilitating diseases with
devastating consequences. Tens of thousands of people are afflicted
nationwide and substantially more globally. Most cases result from
structural abnormalities in the multi-protein dystrophin-glycoprotein
complex, which stabilizes muscle cells during contraction. If the
complex is functionally compromised, as with many forms of muscular
dystrophy, the muscle becomes injured, even with normal use, and begins
to degenerate.

The most common form is Duchenne muscular dystrophy (DMD), which
results from genetic mutations within the dystrophin gene itself.
Replacing the mutated gene with a normal or “wild-type” copy would
therefore correct the problem and restore muscle structure and function.
WCMB researchers are trying to solve this problem using two approaches:
gene and stem cell therapies. Both require the genetic manipulation of
muscle cells and both have rescued animal models of DMD (see video of
Dr. Jeff Chamberlain’s research).

This exciting technology is currently being used to address other
types of muscular dystrophy in addition to DMD. It is also being used
to develop therapeutics for the muscle wasting that occurs with aging
(a.k.a. sarcopenia), cancer (a.k.a. cachexia) and with chronic infection
and could additionally be used to restore injured muscle.